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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 13-95062859-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=95062859&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "ABCC4",
"hgnc_id": 55,
"hgvs_c": "c.3211G>T",
"hgvs_p": "p.Val1071Phe",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_005845.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.653,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.46,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8763562440872192,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1325,
"aa_ref": "V",
"aa_start": 1071,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5855,
"cdna_start": 3348,
"cds_end": null,
"cds_length": 3978,
"cds_start": 3211,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_005845.5",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.3211G>T",
"hgvs_p": "p.Val1071Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000645237.2",
"protein_coding": true,
"protein_id": "NP_005836.2",
"strand": false,
"transcript": "NM_005845.5",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1325,
"aa_ref": "V",
"aa_start": 1071,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5855,
"cdna_start": 3348,
"cds_end": null,
"cds_length": 3978,
"cds_start": 3211,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000645237.2",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.3211G>T",
"hgvs_p": "p.Val1071Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005845.5",
"protein_coding": true,
"protein_id": "ENSP00000494609.1",
"strand": false,
"transcript": "ENST00000645237.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1333,
"aa_ref": "V",
"aa_start": 1071,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4673,
"cdna_start": 3304,
"cds_end": null,
"cds_length": 4002,
"cds_start": 3211,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000967420.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.3211G>T",
"hgvs_p": "p.Val1071Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637479.1",
"strand": false,
"transcript": "ENST00000967420.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1324,
"aa_ref": "V",
"aa_start": 1070,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4533,
"cdna_start": 3244,
"cds_end": null,
"cds_length": 3975,
"cds_start": 3208,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000967421.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.3208G>T",
"hgvs_p": "p.Val1070Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637480.1",
"strand": false,
"transcript": "ENST00000967421.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "V",
"aa_start": 1041,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5765,
"cdna_start": 3258,
"cds_end": null,
"cds_length": 3888,
"cds_start": 3121,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000903573.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.3121G>T",
"hgvs_p": "p.Val1041Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573632.1",
"strand": false,
"transcript": "ENST00000903573.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "V",
"aa_start": 1071,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6135,
"cdna_start": 3719,
"cds_end": null,
"cds_length": 3888,
"cds_start": 3211,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000932202.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.3211G>T",
"hgvs_p": "p.Val1071Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602261.1",
"strand": false,
"transcript": "ENST00000932202.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1291,
"aa_ref": "V",
"aa_start": 1037,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5729,
"cdna_start": 3223,
"cds_end": null,
"cds_length": 3876,
"cds_start": 3109,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000932206.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.3109G>T",
"hgvs_p": "p.Val1037Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602265.1",
"strand": false,
"transcript": "ENST00000932206.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "V",
"aa_start": 1024,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5714,
"cdna_start": 3207,
"cds_end": null,
"cds_length": 3837,
"cds_start": 3070,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001301829.2",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.3070G>T",
"hgvs_p": "p.Val1024Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288758.1",
"strand": false,
"transcript": "NM_001301829.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "V",
"aa_start": 1024,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3863,
"cdna_start": 3075,
"cds_end": null,
"cds_length": 3837,
"cds_start": 3070,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000646439.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.3070G>T",
"hgvs_p": "p.Val1024Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494751.1",
"strand": false,
"transcript": "ENST00000646439.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1261,
"aa_ref": "V",
"aa_start": 1007,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5658,
"cdna_start": 3151,
"cds_end": null,
"cds_length": 3786,
"cds_start": 3019,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000932204.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.3019G>T",
"hgvs_p": "p.Val1007Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602263.1",
"strand": false,
"transcript": "ENST00000932204.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1232,
"aa_ref": "V",
"aa_start": 1071,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5520,
"cdna_start": 3292,
"cds_end": null,
"cds_length": 3699,
"cds_start": 3211,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000903574.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.3211G>T",
"hgvs_p": "p.Val1071Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573633.1",
"strand": false,
"transcript": "ENST00000903574.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "V",
"aa_start": 954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5599,
"cdna_start": 3094,
"cds_end": null,
"cds_length": 3627,
"cds_start": 2860,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000932203.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.2860G>T",
"hgvs_p": "p.Val954Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602262.1",
"strand": false,
"transcript": "ENST00000932203.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1282,
"aa_ref": "V",
"aa_start": 1028,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5751,
"cdna_start": 3244,
"cds_end": null,
"cds_length": 3849,
"cds_start": 3082,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047430034.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.3082G>T",
"hgvs_p": "p.Val1028Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285990.1",
"strand": false,
"transcript": "XM_047430034.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "V",
"aa_start": 888,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5962,
"cdna_start": 3455,
"cds_end": null,
"cds_length": 3429,
"cds_start": 2662,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 28,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_047430035.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.2662G>T",
"hgvs_p": "p.Val888Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285991.1",
"strand": false,
"transcript": "XM_047430035.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1273,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5678,
"cdna_start": null,
"cds_end": null,
"cds_length": 3822,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932205.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "c.3210+8803G>T",
"hgvs_p": null,
"intron_rank": 25,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602264.1",
"strand": false,
"transcript": "ENST00000932205.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6171,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000643051.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "n.*836G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495513.1",
"strand": false,
"transcript": "ENST00000643051.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5999,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000643842.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "n.*3257G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493861.1",
"strand": false,
"transcript": "ENST00000643842.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6171,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 33,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000643051.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "n.*836G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495513.1",
"strand": false,
"transcript": "ENST00000643051.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5999,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000643842.1",
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"hgvs_c": "n.*3257G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493861.1",
"strand": false,
"transcript": "ENST00000643842.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.998694747399931,
"dbsnp": "rs11568653",
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": 0.000004125832,
"gene_hgnc_id": 55,
"gene_symbol": "ABCC4",
"gnomad_exomes_ac": 6,
"gnomad_exomes_af": 0.00000412583,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 0,
"gnomad_genomes_af": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.752,
"pos": 95062859,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.913,
"splice_prediction_selected": "Pathogenic",
"splice_score_selected": 0.9919999837875366,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Uncertain_significance",
"spliceai_max_score": 0.28,
"transcript": "NM_005845.5"
}
]
}